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A rare variant reported to cause growth hormone deficiency in a dominant manner. No statistical was established — only one case report in a screen of 245 families, and no controls reported.
Polyphen 2 predicts damaging effect, and other variants in this gene are associated with growth hormone deficiency
Reduced protein levels observed in vitro, but normal binding
See Pfaeffle RW et al. 2008 (18073311).
No statistical significance
No familial segregation reported
can have a severe effect on stature
treatable with hormone supplementation
Reported as a “mendelian” high penetrance mutation
High clinical importance, Uncertain pathogenic
(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer
U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ. Three novel
missense mutations within the LHX4 gene are associated with variable pituitary
hormone deficiencies. J Clin Endocrinol Metab. 2008 Mar;93(3):1062-71. Epub 2007
Dec 11. PubMed PMID: 18073311; PubMed Central PMCID: PMC2266965.